Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

Berge A. Minassian, Jesus Sainz, Jose M. Serratosa, Manyee Gee, Lise M. Sakamoto, Saeed Bohlega, Guy Geoffroy, Cathy Barr, Steve W. Scherer, Uwamie Tomiyasu, Stirling Carpenter, Karen Wigg, A. V. Sanghvi, Antonio V. Delgado-Escueta

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24.

Original languageEnglish (US)
Pages (from-to)262-265
Number of pages4
JournalAnnals of Neurology
Issue number2
StatePublished - 1999

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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